Canonical Allele Identifier: CA500215848

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42536377-C-G
• MyVariant Identifiers: chr17:g.40688395C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536377C>G , CM000679.2:g.42536377C>G	GRCh38
NC_000017.10:g.40688395C>G , CM000679.1:g.40688395C>G	GRCh37
NC_000017.9:g.37941921C>G	NCBI36
NG_011552.1:g.5445C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.105C>G MANE Select	ENSP00000225927.1:p.Leu35=
ENST00000225927.6:c.105C>G	ENSP00000225927.1:p.Leu35=
NM_000263.3:c.105C>G	NP_000254.2:p.Leu35=
XM_024450771.1:c.105C>G	XP_024306539.1:p.Leu35=
NM_000263.4:c.105C>G MANE Select	NP_000254.2:p.Leu35=